Please consult with your medical professionals before starting on any new treatments
While there is not yet a cure for Pompe disease, there are treatments that extend and improve the lives of people with Pompe. Researchers continue to study different ways to correct the effects of Pompe, while also working towards finding cures. The process of developing a new treatment involves many steps and can take years. The following information is a basic overview of some of the strategies in use or in development to treat Pompe disease. We wanted to give readers an idea about the incredible work involved in trying to address this complex disease. Resources and references are suggested to aid in beginning to learn more. It is exciting to know that there are many different approaches to dealing with Pompe. There is so much to be hopeful about for the future. Existing Treatments Enzyme Replacement Therapy The current standard of care for treating Pompe disease is enzyme replacement therapy (ERT). It has been studied and advanced since the mid-90s. The first successful trials for ERT were in 1999, and the first treatment was approved in 2006. ERT has been shown to decrease heart size in IOPD, maintain normal heart function, stabilize or even improve how muscles work, and reduce build-up of glycogen in cells. ERT extends the life of people with classic infantile-onset Pompe disease (IOPD) and slows and sometimes improves disease progression in people with late-onset Pompe disease (LOPD). ERT works by replacing the GAA enzyme that is missing in the body or is there in only a tiny amount. This lab-made GAA enzyme is called recombinant human GAA (rhGAA). It is given intravenously, through the patient’s vein, into the bloodstream. ERT is done on a regular schedule for life. During ERT, some of the rhGAA does not go into the affected body tissues, like skeletal muscle, as it should. Also, the body’s immune system may treat the lab-made rhGAA as a threat and create antibodies against it. These problems limit how well ERT works. Other factors in how well ERT works include age when ERT is started, type of muscle that is affected (type 1 versus type 2), the genetic make-up of the person with Pompe, and disease management.